The use of automated electrospray ionization tandem MS for the diagnosis of inborn errors of metabolism from dried blood spots

Biochem Soc Trans. 1996 Aug;24(3):932-8. doi: 10.1042/bst0240932.
No abstract available

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biliary Atresia / blood
  • Biliary Atresia / diagnosis
  • Carnitine / analogs & derivatives
  • Carnitine / blood
  • Child
  • Fatty Acid Desaturases / deficiency
  • Humans
  • Infant, Newborn
  • Maple Syrup Urine Disease / blood
  • Maple Syrup Urine Disease / diagnosis
  • Mass Spectrometry / methods*
  • Metabolism, Inborn Errors / blood
  • Metabolism, Inborn Errors / diagnosis*
  • Methylmalonic Acid / urine
  • Zellweger Syndrome / blood
  • Zellweger Syndrome / diagnosis

Substances

  • Methylmalonic Acid
  • Fatty Acid Desaturases
  • Carnitine